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Home , Spherocytosis

Hereditary (HS)

What is (HS)? HS is found in about 1/5,000 people. It is more common in people of Northern European ancestry, but is found in Hereditary spherocytosis (HS) is a medical term for a other ethnic groups. condition which affects the walls of the red cells. They get stuck in an organ called the , which then destroys them. The process where red blood cells are How severe are the symptoms of HS? destroyed is called . The symptoms of HS vary from person to person, and can be mild, moderate or severe. Mild HS (about 20% of What are red blood cells? cases) will have minimal symptoms and may not be diagnosed until adulthood. Severe HS (about 5% of Blood contains 3 types of cells: red blood cells (RBC), cases) is usually diagnosed in newborns and infants, white blood cells (WBC), and platelets. Red blood cells and requires very careful medical attention. Moderate are the most common type of blood cells, and are HS (about 75% of cases) is somewhere in between. responsible for delivering to all parts of the body.

Red blood cells, like white cells and platelets, are What are the symptoms of HS? continuously made in the bone marrow. When released into the bloodstream, the average lifespan of a red cell is Symptoms of HS are due to 2 processes: hemolysis and 120 days. .

Under the microscope, normal red cells are shaped like When red blood cells break down (hemolysis), they discs or donuts with the center partially scooped out. release bilirubin into the bloodstream, which causes This shape makes them very soft and flexible, so they yellowing of the skin () and eyes. Hemolysis can easily squeeze through very small blood vessels. causes different problems depending on the age:

Sometimes there is a problem with the wall of the red • Newborns – may need light therapy or further cell which changes shape to look like sphere or ball. measures These cells are called spherocytes. They are not as soft or flexible as regular red blood cells. As a result, they • Children – increasing size of the spleen have difficulty moving through small blood vessels, and tend to get stuck. • Teens/adults – gallstones that may require surgery

If enough red blood cells are destroyed, the red blood How is HS diagnosed? cell count will be low (anemia). Symptoms of anemia include looking pale, being tired or weak, headaches, HS is diagnosed by medical evaluation and blood tests. poor concentration, and challenges with behavior and These blood tests include a school. (CBC). If the medical evaluation and CBC are suspicious for HS, special blood tests and scans are needed.

How did my child get HS?

HS is usually inherited from one parent, but this is not always the case. Sometimes people with HS may not know they have the illness unless they undergo testing.

Hereditary Spherocytosis (HS)

How is HS treated? For more information you may contact the Department at BC Children’s Hospital: There is no cure for HS. Folic acid supplement should be taken. Folic acid is an important building block for Hematology Clinic: (604) 875-2116 red blood cells and is needed in higher amount when red blood cells are being destroyed. Hematology Nurse Clinician Susan Lee, RN (604) 875-2345 ext 7060 Other treatments may include: Email: [email protected]

• Blood transfusions After hours/weekend/emergency Hematologist on-call: (604) 875-2161 • Removal of part or all of the spleen

What should I watch for?

Certain viral infections can cause the bone marrow to be paralyzed, or cause the spleen to destroy more red blood cells than usual. This can cause a dangerously low level of red blood cells.

Increasing paleness or yellowness, especially if accompanied by low energy, difficulty breathing, headaches or irritability are some of the signs that the red cell count is dangerously low.

If your child’s spleen is enlarged, contact sports and other high risk activities must be avoided. This is because the spleen can rupture if it is hit. Sometimes a spleen guard can be worn for protection.